Phenotypes associated with the disease familial hypocalciuric hypercalcemia 2 (OMIM:145981):
- Multiple lipomas (HP:0001012): The presence of multiple lipomas (a type of benign tissue made of fatty tissue). Evidence: TAS. (OMIM:145981)
- Peptic ulcer (HP:0004398): The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:145981)
- Hypermagnesemia (HP:0002918): The concentration of magnesium in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 10/10. (PMID:23802516)
- Primary hyperparathyroidism (HP:0008200): A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. Evidence: IEA. (OMIM:145981)
- Parathormone-independent increased renal tubular calcium reabsorption (HP:0003529): An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels. Evidence: TAS. (OMIM:145981)
- Chondrocalcinosis (HP:0000934): Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . Evidence: TAS. (OMIM:145981)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:145981)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:145981)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. (OMIM:145981)
- Hypocalciuria (HP:0003127): An abnormally decreased calcium concentration in the urine. Evidence: TAS. (OMIM:145981)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. Frequency: 20/20. (OMIM:145981;PMID:23802516)